Journal
NEUROLOGY
Volume 85, Issue 5, Pages 404-412Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000001807
Keywords
-
Categories
Funding
- Sumitomo Life Welfare and Culture Foundation
- Uehara Memorial Foundation
- NIH/National Institute of Neurological Disorders and Stroke [P50-NS072187, R01-NS057567]
- Advanced Neuromodulation Systems, Inc./St. Jude Medical
- Mayo Clinic CR program
- NIH, Autonomic Rare Diseases Clinical Research Consortium [6102]
- Mayo Clinic Program in Professionalism Ethics [PPE-5]
- NIH [P50-NS072187, R01-DC010367, R01-DC012519, R01-AG037491, U54-ES012077, P50-AG016574, P01-AG003949]
- Alzheimer's Association
- Teva
- Merck Serono
- Lundbeck
- Iperion
- Michael J. Fox Foundation
- Department of Defense
- California Institute for Regenerative Medicine [CIRM TRI-01246, TTII-019665]
- CurePSP: Foundation for PSP CBD and Related Disorders
Ask authors/readers for more resources
Objective:To determine ways to improve diagnostic accuracy of multiple system atrophy (MSA), we assessed the diagnostic process in patients who came to autopsy with antemortem diagnosis of MSA by comparing clinical and pathologic features between those who proved to have MSA and those who did not. We focus on likely explanations for misdiagnosis.Methods:This is a retrospective review of 134 consecutive patients with an antemortem clinical diagnosis of MSA who came to autopsy with neuropathologic evaluation of the brain. Of the 134 patients, 125 had adequate medical records for review. Clinical and pathologic features were compared between patients with autopsy-confirmed MSA and those with other pathologic diagnoses, including dementia with Lewy bodies (DLB), Parkinson disease (PD), and progressive supranuclear palsy (PSP).Results:Of the 134 patients with clinically diagnosed MSA, 83 (62%) had the correct diagnosis at autopsy. Pathologically confirmed DLB was the most common misdiagnosis, followed by PSP and PD. Despite meeting pathologic criteria for intermediate to high likelihood of DLB, several patients with DLB did not have dementia and none had significant Alzheimer-type pathology. Autonomic failure was the leading cause of misdiagnosis in DLB and PD, and cerebellar ataxia was the leading cause of misdiagnosis in PSP.Conclusions:The diagnostic accuracy for MSA was suboptimal in this autopsy study. Pathologically confirmed DLB, PD, and PSP were the most common diseases to masquerade as MSA. This has significant implications not only for patient care, but also for research studies in MSA cases that do not have pathologic confirmation.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available